Varaico: Literature-Extracted Genetic Variants

APC2

218 papers

RefSeq Summary

This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the as...

Pfam Domains

APC_N_CCaa 6–57UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 124–205UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 357–431UCSCAdenomatous polyposis coli (APC) repeat

Armaa 614–654UCSCArmadillo/beta-catenin-like repeat

Arm_APC_u3aa 697–959UCSCArmadillo-associated region on APC

APC_raa 1054–1076UCSCAPC repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway 2

HGNC Alias Symbol

APCL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005883.3

p.V5L

c.13G>C

Surrounding Variants

1 paper

NM_005883.3

p.V5L

c.13G>T

4 papers

NM_005883.3

p.A6V

c.17C>T

1 paper

NM_005883.3

p.S3insFs

c.7_8ins19

1 paper

NM_005883.3

p.A2A

c.6G>A

1 paper

NM_005883.3

p.Q14_V15insFs

c.42_43insT

1 paper

NM_005883.3

p.V15G

c.44T>G

1 paper

NM_005883.3

p.A20P

c.58G>C

1 paper

NM_005883.3

p.A20D

c.59C>A

1 paper

NM_005883.3

p.N22_S23ins3

c.66_67ins9

1 paper

NM_005883.3

p.R26R

c.76A>C

1 paper

NM_005883.3

p.S33A

c.97T>G

1 paper

NM_005883.3

p.S33C

c.98C>G